It’s been 20 years since the successful completion of the Human Genome Project in 2003 and 70 years since the discovery of DNA’s double helix by James Watson, Francis Crick and Rosalind Franklin in 1953.
National DNA Day was created to celebrate these two life changing scientific advancements and provide an annual opportunity to highlight the latest advances in genomic research and explore what they mean for humankind.
The Human Genome Project dramatically improved the tools and techniques used to sequence DNA. It also began a process to continually improve the human reference genome sequence, used as the comparator for all subsequent sequences, while spawning a host of new technologies for ever faster, ever cheaper sequencing with myriad tools for analyzing and interpreting human genetic variation. According to the National Human Genome Research Institute, this work reduced the cost to sequence DNA by a million-fold, giving us multiple methods for sequencing DNA at a previously unbelievable scale.
Despite the incredible medical and technological achievements in genomics, many patients who could benefit from genetic testing and genomic medicine don’t have access due to gaps in provider knowledge, insurance coverage, or other obstacles. Why is this important? Simply put, genetics impacts us all:
- At the whole-genome level, approximately 20 percent of us carry a rare genetic disease variant1 that will likely manifest as disease over the course of our lifetime
- Even at the level of the more tractable, actionable common disease panel (~150 genes) one in six of us will have a variant that will change the course of our care today2
- More than 90 percent of us have factors that affect which medications can best manage our diseases or conditions for optimal outcomes3 and a similar percentage will screen carrier-positive for a condition that could affect our offspring
As mentioned, provider knowledge about genomic medicine is one important barrier to access in healthcare today. While expertise in the genetics related to their clinical area is gradually expanding among medical specialists, most providers continue to report a lack of, and comfort in, the use of genetic diagnostics 4. Expertise in genomics still lies primarily with medical geneticists and genetic counselors. The shortage of medical geneticists continues to grow, with around one practicing clinical geneticist per 500,000 people in the U.S. and only around 1,200 geneticists overall 5. While genetic counseling education has grown at a faster pace, the story is only a little better, with approximately one genetic counselor (GC) for every 72,000 individuals and less than 6,000 GCs overall in the U.S.6. Making matters worse for access to both MD and GC experts is the large percentage that work in non-clinical (mostly lab) roles, and the fact that the vast majority live or work within metropolitan areas, limiting access to many Americans.
As the role of genetics and genomics continues to be integrated across healthcare systems, laboratories, biopharmaceutical companies and the consumer market, these access issues will only get worse. This means:
- For healthcare systems: A backlog of patients in need of services, long patient wait times, and (paradoxically) high no-show rates as patients give up or seek care elsewhere
- For laboratories: Limited patient access to appropriate genetic testing, insufficient patient and provider education about test results (when they do occur), with substandard medical management based on the result
- For biopharmaceutical companies: Limited access to the diverse populations needed for optimal clinical trial enrollment
To overcome these challenges, and to realize true progress, we need proven tech-enabled service delivery models that can support efficient, clinically actionable genetic services at scale across broad populations, regardless of physical location.
Companies like Genome Medical bridge the gap between available genomic expertise and technologies and current medical practices. We have pioneered flexible, technology-enabled, scalable solutions designed to drive genetic service equity, accessibility and efficiency through early detection, prevention, diagnosis and advanced treatments. Through partnerships with hospitals and health systems, biopharmaceutical organizations and genetic testing labs, these solutions put standard-of-care genetic and genomic medicine within reach of every individual who can benefit.
As one sequencing platform now boasts a per-genome cost under $100 and new therapies for rare genetic disease emerge almost weekly, there is no time to waste in scaling telemedicine services in genetics broadly on a national level. From risk assessment, education, test selection and ordering to telegenetic counseling and medical management, it is time to bring to bear scalable, tech-enabled solutions to overcome the care-gaps in genomic medicine. The impact of genomic medicine has never been more clear. We need to ensure that access to the experts who can best deliver this care is not a limiting factor.
National DNA Day is a celebration meant to energize and empower us all to learn, innovate and discover what is possible. Genomic medicine has transformed the way we understand, diagnose and treat disease. As we work together to equitably bring the power of these discoveries to everyday care, we will witness the positive impact they have on the health of patients, families, communities and populations across the country and world.
References
- Vassy et al 2017 Annals of Internal Medicine PMID: 28654958
- Haverfield et al 2021 BMC Medicine PMID: 34404389
- Haidar et al 2022 Annual Review of Genomics and Human Genetics PMID: 35537468
- Schaibley VM, Ramos IN, Woosley RL, Curry S, Hays S and Ramos KS (2022) Limited Genomics Training Among Physicians Remains a Barrier to Genomics-Based Implementation of Precision Medicine. Front. Med. 9:757212. doi: 10.3389/fmed.2022.757212
- Jenkins, B.D., Fischer, C.G., Polito, C.A. et al. The 2019 US medical genetics workforce: a focus on clinical genetics. Genet Med 23, 1458–1464 (2021). https://doi.org/10.1038/s41436-021-01162-
- National Society of Genetic Counselors (NSGC), Professional Status Survey 2022, accessed on April 12, 2023 from https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
Steven Bleyl, MD, PHD
Dr. Bleyl guides the development of Genome Medical’s clinical care processes in its vision to bring genomics to everyone who needs it. Dr. Bleyl is board-certified in medical genetics with a doctorate degree in human genetics and his background spans experience in molecular biology, experimental embryology, clinical care and administrative oversight of clinical services across an integrated health system
